Mauno Vihinen
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Biology
Mauno Vihinen's Degrees
- PhD Biochemistry University of Helsinki
- Masters Biochemistry University of Helsinki
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(Suggest an Edit or Addition)Mauno Vihinen's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The EUROclass trial: defining subgroups in common variable immunodeficiency. (2008) (727)
- Copy Number Analysis Indicates Monoclonal Origin of Lethal Metastatic Prostate Cancer (2009) (645)
- Performance of mutation pathogenicity prediction methods on missense variants (2011) (515)
- Microbial amylolytic enzymes. (1989) (441)
- Bruton’s tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain (2009) (423)
- V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. (2001) (325)
- Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. (2000) (299)
- The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species (2001) (299)
- Finding Our Way through Phenotypes (2015) (284)
- Relationship of protein flexibility to thermostability. (1987) (276)
- Performance of protein stability predictors (2010) (275)
- Accuracy of protein flexibility predictions (1994) (272)
- How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis (2012) (242)
- The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein* (2000) (239)
- Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods (2009) (232)
- Characterization of CA XIII, a Novel Member of the Carbonic Anhydrase Isozyme Family* (2004) (224)
- Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain. (2003) (216)
- The mutational spectrum of human malignant autosomal recessive osteopetrosis. (2001) (214)
- Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling (2005) (200)
- BTKbase: the mutation database for X‐linked agammaglobulinemia (2006) (188)
- PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants (2015) (172)
- Selection of a representative set of structures from brookhaven protein data bank (1992) (164)
- Human Proteinpedia enables sharing of human protein data (2008) (164)
- Characterization of CA XV, a new GPI-anchored form of carbonic anhydrase. (2005) (162)
- Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals (2011) (136)
- VariBench: A Benchmark Database for Variations (2013) (135)
- Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. (1998) (123)
- A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. (2013) (117)
- CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. (1996) (117)
- Mutations of the human BTK gene coding for bruton tyrosine kinase in X‐linked agammaglobulinemia (1999) (114)
- SH3-Domain binding function of HIV-1 Nef is required for association with a PAK-related kinase. (1998) (112)
- Aromatic interactions define the binding of the alphavirus spike to its nucleocapsid. (1996) (110)
- Tec homology (TH) adjacent to the PH domain (1994) (109)
- Structure-Function Analysis of PrsA Reveals Roles for the Parvulin-like and Flanking N- and C-terminal Domains in Protein Folding and Secretion in Bacillus subtilis* (2004) (108)
- Variation Interpretation Predictors: Principles, Types, Performance, and Choice (2016) (107)
- APECED‐causing mutations in AIRE reveal the functional domains of the protein (2004) (107)
- PON‐P: Integrated predictor for pathogenicity of missense variants (2012) (105)
- Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency (2001) (99)
- Immunodeficiency mutation databases (IDbases). (1998) (96)
- Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies (2008) (96)
- Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency.Defects of the gc‐JAK3 signaling pathway as a model (2000) (95)
- Primary immunodeficiency mutation databases. (2001) (94)
- PhenCode: connecting ENCODE data with mutations and phenotype (2007) (93)
- Spectrum of disease-causing mutations in protein secondary structures (2007) (93)
- Overexpression of translocation-associated fusion genes of FGFRI, MYC, NPMI, and DEK, but absence of the translocations in acute myeloid leukemia. A microarray analysis. (2002) (89)
- Distinct gene expression profiling in chronic lymphocytic leukemia with 11q23 deletion (2001) (86)
- Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA) (1994) (84)
- BTKbase, mutation database for X-linked agammaglobulinemia (XLA). (1996) (82)
- DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. (1995) (82)
- BTKbase: a database of XLA-causing mutations (1995) (82)
- Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis (2013) (78)
- Pattern of Somatic Androgen Receptor Gene Mutations in Patients with Hormone-Refractory Prostate Cancer (2002) (75)
- Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. (1994) (74)
- Site-directed mutagenesis of a thermostable alpha-amylase from Bacillus stearothermophilus: putative role of three conserved residues. (1990) (74)
- Solution structure of the SH3 domain from Bruton's tyrosine kinase. (1998) (73)
- Sequence specificity in CpG mutation hotspots (1996) (72)
- ETS1 Mediates MEK1/2-Dependent Overexpression of Cancerous Inhibitor of Protein Phosphatase 2A (CIP2A) in Human Cancer Cells (2011) (71)
- A novel family of DNA-polymerase-associated B subunits. (1999) (70)
- KinMutBase: A registry of disease‐causing mutations in protein kinase domains (2005) (70)
- Immunome: a reference set of genes and proteins for systems biology of the human immune system. (2006) (65)
- X‐linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease (1996) (65)
- Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). (1995) (64)
- Prediction of disease-related mutations affecting protein localization (2009) (62)
- Mapping and cloning of FAD2 gene to develop allele-specific PCR for oleic acid in spring turnip rape (Brassica rapa ssp. oleifera) (1998) (62)
- Genome wide analysis of pathogenic SH2 domain mutations (2008) (62)
- Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. (1995) (62)
- How good are pathogenicity predictors in detecting benign variants? (2018) (61)
- MUTbase: maintenance and analysis of distributed mutation databases (1999) (60)
- Determination and analysis of antigenic epitopes of prostate specific antigen (PSA) and human glandular kallikrein 2 (hK2) using synthetic peptides and computer modeling (1998) (60)
- Recommendations for locus‐specific databases and their curation (2008) (59)
- BTKbase, mutation database for X-linked agammaglobulinemia (XLA) (1996) (58)
- Probing the α‐complementing domain of E. coli β‐galactosidase with use of an insertional pentapeptide mutagenesis strategy based on Mu in vitro DNA transposition (2004) (58)
- Thermal unfolding of small proteins with SH3 domain folding pattern (1998) (57)
- BTKbase, mutation database for X-linked agammaglobulinemia (XLA) (1998) (57)
- Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA). (2000) (57)
- Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several single nucleotide polymorphisms and their combinations as prostate cancer risk factors. (2006) (56)
- Delta3,5-delta2,4-dienoyl-CoA isomerase from rat liver. Molecular characterization. (1998) (55)
- Lindvall, J. M. et al. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol. Rev. 203, 200-215 (2005) (54)
- Variation Ontology for annotation of variation effects and mechanisms (2014) (53)
- Bioinformatics in proteomics. (2001) (53)
- Guidelines for establishing locus specific databases (2012) (52)
- Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations (2006) (52)
- Changes in apoptosis-related pathways in acute myelocytic leukemia. (2003) (50)
- A statistical score for assessing the quality of multiple sequence alignments (2006) (50)
- Characterization of a thermostable Bacillus stearothermophilus alpha‐amylase (1990) (50)
- Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain. (2004) (49)
- The structural basis of hyper IgM deficiency - CD40L mutations. (2007) (49)
- Planning the Human Variome Project: The Spain report (2009) (48)
- PON-tstab: Protein Variant Stability Predictor. Importance of Training Data Quality (2018) (48)
- VariSNP, A Benchmark Database for Variations From dbSNP (2015) (48)
- BTKbase: XLA-mutation registry. (1996) (45)
- Intermolecular interactions between the SH3 domain and the proline‐rich TH region of Bruton's tyrosine kinase (2001) (45)
- Immunodeficiency mutation databases (IDbases) (2006) (45)
- Molecular characterization of the immune system: emergence of proteins, processes, and domains (2007) (45)
- Structural basis of SH2 domain mutations in X-linked agammaglobulinemia. (1994) (44)
- AMINO-ACID-SEQUENCE SIMILARITIES OF THE MITOCHONDRIAL SHORT CHAIN DELTA-3,DELTA-2-ENOYL-COA ISOMERASE AND PEROXISOMAL MULTIFUNCTIONAL DELTA-3,DELTA-2-ENOYL-COA ISOMERASE, 2-ENOYL-COA HYDRATASE, 3-HYDROXYACYL-COA DEHYDROGENASE ENZYME IN RAT-LIVER - THE PROPOSED OCCURRENCE OF ISOMERIZATION AND HYDRATI (1991) (44)
- Different gene expression in immunoglobulin-mutated and immunoglobulin-unmutated forms of chronic lymphocytic leukemia. (2004) (44)
- Pleckstrin homology domains of tec family protein kinases. (1999) (44)
- Identification of novel transcription factor-like gene from human intestinal cells. (2000) (43)
- Curating gene variant databases (LSDBs): Toward a universal standard (2012) (43)
- Conservation of functional residues between yeast and E. coli inorganic pyrophosphatases. (1990) (42)
- Immunome Knowledge Base (IKB): An integrated service for immunome research (2009) (42)
- cDNA microarray analysis of gene expression in coeliac disease jejunal biopsy samples. (2004) (42)
- C-terminal truncations of a thermostable Bacillus stearothermophilus alpha-amylase. (1994) (41)
- Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant (2016) (40)
- Characterization of All Possible Single‐Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase (2015) (39)
- Missense mutations affecting a conserved cysteine pair in the TH domain of Btk (1997) (39)
- Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish. (2013) (39)
- How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010 (2010) (38)
- Structure-based prediction of the effects of a missense variant on protein stability (2013) (38)
- Six X-Linked Agammaglobulinemia-Causing Missense Mutations in the Src Homology 2 Domain of Bruton’s Tyrosine Kinase: Phosphotyrosine-Binding and Circular Dichroism Analysis1 (2000) (37)
- Physicochemical feature-based classification of amino acid mutations. (2007) (37)
- PON-Sol: prediction of effects of amino acid substitutions on protein solubility (2016) (37)
- Structural Basis of Bloom Syndrome (BS) Causing Mutations in the BLM Helicase Domain (2000) (37)
- Modeling of prostate specific antigen and human glandular kallikrein structures. (1994) (37)
- Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges (2017) (36)
- Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project (2009) (36)
- PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations (2016) (34)
- Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain (2000) (34)
- Classification of mismatch repair gene missense variants with PON‐MMR (2012) (33)
- KinMutBase, a database of human disease-causing protein kinase mutations (1999) (33)
- Phylogeny of Tec family kinases identification of a premetazoan origin of Btk, Bmx, Itk, Tec, Txk, and the Btk regulator SH3BP5. (2008) (32)
- Predicting Severity of Disease‐Causing Variants (2017) (32)
- PROlocalizer: integrated web service for protein subcellular localization prediction (2010) (32)
- Model-based prediction of sequence alignment quality (2008) (31)
- Immunodeficiency mutation databases (1996) (31)
- Copy Number Variation Analysis in Familial BRCA1/2-Negative Finnish Breast and Ovarian Cancer (2013) (30)
- Specific autoantibody profiles and disease subgroups correlate with circulating micro-RNA in systemic sclerosis. (2015) (28)
- Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. (2010) (28)
- Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency. (2000) (27)
- Novel immunodeficiency data servers (2000) (27)
- Structural aspects of signal transduction in B-cells. (1996) (27)
- Types and effects of protein variations (2015) (27)
- Identification of differentially expressed genes after PPM1D silencing in breast cancer. (2008) (27)
- Systematic Classification of Primary Immunodeficiencies Based on Clinical, Pathological, and Laboratory Parameters1 (2009) (26)
- BTK, the tyrosine kinase affected in X-linked agammaglobulinemia. (1997) (26)
- National research contributions: A case study on Finnish biomedical research (2008) (26)
- Androgen-sensitive human prostate cancer cells, LNCaP, produce both N-terminally mature and truncated prostate-specific antigen isoforms. (1998) (26)
- IDR knowledge base for primary immunodeficiencies (2007) (26)
- Variation benchmark datasets: update, criteria, quality and applications (2019) (25)
- Novel association of neurofibromatosis type 1‐causing mutations in families with neurofibromatosis‐noonan syndrome (2014) (25)
- Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. (2000) (25)
- RankViaContact: ranking and visualization of amino acid contacts (2003) (24)
- TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration. (2021) (24)
- ImmTree: Database of evolutionary relationships of genes and proteins in the human immune system (2007) (24)
- Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions (2014) (24)
- Molecular dynamics simulation of the effects of cytosine methylation on structure of oligonucleotides (2001) (23)
- Clustering of gene ontology terms in genomes. (2014) (23)
- Interaction between Btk TH and SH3 domain. (2002) (23)
- Analysis of Btk Mutations in Patients with X‐Linked Agammaglobulinaemia (XLA) and Determination of Carrier Status in Normal Female Relatives: a Nationwide Study of Btk Deficiency in Greece (2001) (22)
- Molecular and Structural Characterization of Five Novel Mutations in the Bruton’s Tyrosine Kinase Gene from Patients with X-Linked Agammaglobulinemia (1997) (22)
- Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D3 Metabolites (2013) (22)
- High-precision mapping of protein–protein interfaces: an integrated genetic strategy combining en masse mutagenesis and DNA-level parallel analysis on a yeast two-hybrid platform (2007) (21)
- Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON‐MMR2 (2015) (21)
- IDR: the ImmunoDeficiency Resource (2002) (21)
- FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes (2019) (21)
- Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies (2016) (21)
- Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts. (1992) (20)
- Stimulation of B and T cells activates expression of transcription and differentiation factors. (1998) (20)
- BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib (2021) (20)
- Structure-Function Relationships of Covalent and Non-Covalent BTK Inhibitors (2021) (20)
- Online Registry of Genetic and Clinical Immunodeficiency Diagnostic Laboratories, IDdiagnostics (2004) (20)
- How to Define Pathogenicity, Health, and Disease? (2017) (19)
- Immunodeficiency mutation databases--a new research tool. (1996) (19)
- An algorithm for simultaneous comparison of several sequences (1988) (19)
- Majority Vote and Other Problems when using Computational Tools (2014) (19)
- X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase (2004) (19)
- PseudoGeneQuest – Service for identification of different pseudogene types in the human genome (2008) (18)
- Mobile access to biological databases on the Internet (2002) (18)
- Structural analysis of an anti-estradiol antibody. (1997) (18)
- Sharing data between LSDBs and central repositories (2009) (18)
- No more hidden solutions in bioinformatics (2015) (18)
- Muddled genetic terms miss and mess the message. (2015) (17)
- Accurate prediction of protein secondary structural class with fuzzy structural vectors. (1995) (17)
- Coevolution of the domains of cytoplasmic tyrosine kinases. (2001) (17)
- Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases (2017) (17)
- Nucleolar proteins with altered expression in leukemic cell lines. (2012) (17)
- Functional effects of protein variants. (2020) (17)
- Microarray analysis of B-cell stimulation. (2002) (17)
- Proteome analysis of B‐cell maturation (2006) (17)
- Human Variome Project Quality Assessment Criteria for Variation Databases (2016) (17)
- Pan-cancer analysis of neoepitopes (2018) (16)
- Mutation (variation) databases and registries: a rationale for coordination of efforts (2011) (16)
- VarioML framework for comprehensive variation data representation and exchange (2012) (16)
- Representativeness of variation benchmark datasets (2018) (16)
- Harmful somatic amino acid substitutions affect key pathways in cancers (2015) (16)
- Efficiency of the immunome protein interaction network increases during evolution (2008) (16)
- BTKbase: a database of XLA-causing mutations. International Study Group. (1995) (15)
- Stimulation-induced gene expression in Ramos B-cells (2003) (15)
- B cells. (2005) (15)
- Identification of csk tyrosine phosphorylation sites and a tyrosine residue important for kinase domain structure. (1997) (14)
- Crystal structure of a 1.6‐hexanediol bound tetrameric form of Escherichia coli Lac‐repressor refined to 2.1 Å resolution (2008) (14)
- Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration (2009) (14)
- Immunity genes and their orthologs: a multi-species database. (2007) (14)
- On exact string matching of unique oligonucleotides (2005) (13)
- Problems in variation interpretation guidelines and in their implementation in computational tools (2020) (13)
- Structural similarity of the binding sites of cyclophilin A-cyclosporin A and FKBP-FK506 systems. (1993) (13)
- Dynamic covariation between gene expression and proteome characteristics (2005) (13)
- Virtual bioinformatics distance learning suite * (2004) (13)
- KinMutBase, a database of human disease-causing protein kinase mutations (2000) (13)
- Standard development at the Human Variome Project (2015) (12)
- Conserved residues of liquefying α-amylases are concentrated in the vicinity of active site (1990) (12)
- Modelling the structure of the calcitonin gene-related peptide. (1994) (12)
- Structural basis for X-linked agammaglobulinemia (XLA): mutations at interacting Btk residues R562, W563, and A582. (1995) (12)
- Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death (2008) (12)
- Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B. (2002) (12)
- Bioinformatics services related to diagnosis of primary immunodeficiencies (2009) (12)
- A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases (2007) (12)
- Benchmarking subcellular localization and variant tolerance predictors on membrane proteins (2019) (11)
- ProTstab – predictor for cellular protein stability (2019) (11)
- Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). (2021) (11)
- The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards” (2010) (11)
- Efficient estimation of emission probabilities in profile hidden Markov models (2003) (10)
- Human variome project country nodes: Documenting genetic information within a country (2012) (10)
- Simultaneous comparison of several sequences. (1990) (10)
- Parkinson’s disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein–induced changes in maturation and immune reactive properties (2022) (10)
- NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database (2018) (10)
- MULTICOMP: a program package for multiple sequence comparison (1992) (10)
- Finding our way through phenotypes. PLoS Biology 13(1): e1002033. (2015) (10)
- On preprocessing of protein sequences for neural network prediction of polyproline type II secondary structures (2001) (10)
- NMD and microRNA expression profiling of the HPCX1 locus reveal MAGEC1 as a candidate prostate cancer predisposition gene (2011) (10)
- Fast Iterative Gene Clustering Based on Information Theoretic Criteria for Selecting the Cluster Structure (2004) (10)
- Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI (2017) (10)
- Registries of immunodeficiency patients and mutations (1997) (9)
- Immunological systems biology: gene expression analysis of B-cell development in Ramos B-cells. (2007) (9)
- Amino acid sequence similarities of the mitochondrial short chain delta 3, delta 2-enoyl-CoA isomerase and peroxisomal multifunctional delta 3, delta 2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase enzyme in rat liver. The proposed occurrence of isomerization and hydrat (1991) (9)
- Neural network prediction of polyproline type II secondary structures. (2000) (9)
- Computer modeling of two inorganic pyrophosphatases. (1992) (8)
- Representative selection of proteins based on nuclear families. (1995) (8)
- Primary Immunodeficiencies: Genotype–Phenotype Correlations (2006) (8)
- Systematics for types and effects of DNA variations (2018) (8)
- Statistical Methods for Identifying Conserved Residues in Multiple Sequence Alignment (2004) (8)
- Site-directed mutagenesis of putative active-site residues of Bacillus stearothermophilus α-amylase (1991) (8)
- Identification of core T cell network based on immunome interactome (2014) (7)
- Proper reporting of predictor performance (2014) (7)
- Distribution of immunodeficiency fact files with XML – from Web to WAP (2005) (7)
- Genome-wide selection of unique and valid oligonucleotides (2005) (7)
- Proteomic Changes during B Cell Maturation: 2D-DIGE Approach (2013) (7)
- Novel insertions of Bruton tyrosine kinase in patients with X‐linked agammaglobulinemia (2002) (7)
- Strategy for Disease Diagnosis, Progression Prediction, Risk Group Stratification and Treatment—Case of COVID-19 (2020) (7)
- The Role of Bruton´s Tyrosine Kinase (Btk) in Phosphoinositide-Dependent Signaling (2000) (6)
- V(D)J recombination defects in lymphocytes: a severe immunodeficiency with a spectrum of clinical presentations due to Rag mutations (2000) (6)
- Interactions between SH2 and SH3 domains. (1998) (6)
- Variation ontology: annotator guide (2014) (6)
- PON-SC – program for identifying steric clashes caused by amino acid substitutions (2017) (6)
- Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants (2019) (6)
- Rational design and purification of human Bruton's tyrosine kinase SH3-SH2 protein for structure-function studies. (2000) (6)
- Systematics for types and effects of RNA variations (2018) (6)
- Report of the ESID collaborative study on clinical features and molecular analysis in X-linked hyper-IgM syndrome. (1998) (6)
- Contribution of pseudogenes to sequence diversity. (2014) (6)
- When a Synonymous Variant Is Nonsynonymous (2022) (6)
- Evaluation of Protein Hydropathy Scales (2007) (6)
- PON-Sol2: Prediction of Effects of Variants on Protein Solubility (2021) (5)
- On Approximate String Matching of Unique Oligonucleotides (2001) (5)
- Erratum: Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer (2009) (5)
- Δ3,5-Δ2,4-Dienoyl-CoA Isomerase from Rat Liver (1998) (5)
- BioWAP, mobile Internet service for bioinformatics (2001) (5)
- HYDRO: a program for protein hydropathy predictions. (1993) (5)
- On Postprocessing of Neural Network Prediction of Polyproline Type II Secondary Structures: Network Spectrum, Response Analysis, and Scattering (2003) (5)
- Immunodeficiency, Primary: Affecting the Adaptive Immune System (2015) (5)
- A novel mutation in CD40 and its functional characterization (2009) (4)
- Problems with anti-plagiarism database (2008) (4)
- Poikilosis - pervasive biological variation. (2020) (4)
- Flexibility in MuA Transposase Family Protein Structures: Functional Mapping with Scanning Mutagenesis and Sequence Alignment of Protein Homologues (2012) (4)
- ProTstab2 for Prediction of Protein Thermal Stabilities (2022) (4)
- Genetic Variation in Bruton Tyrosine Kinase (2015) (4)
- Structural consequences of neopullulanase mutations. (1996) (4)
- Guidelines for systematic reporting of sequence alignments (2020) (4)
- Correction: Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D3 Metabolites (2013) (3)
- Molecular/structural characterization of novel mutations and identification of novel polymorphisms in the Bruton's tyrosine kinase (Btk) gene from patients with X-linked agammaglobulinemia (XLA). (1997) (3)
- ETS 1 Mediates MEK 1 / 2-Dependent Overexpression of Cancerous Inhibitor of Protein Phosphatase 2 A ( CIP 2 A ) in Human Cancer Cells (2011) (3)
- Circulating plasma microRNAs in systemic sclerosis-associated pulmonary arterial hypertension (2021) (3)
- VariOtator, a Software Tool for Variation Annotation with the Variation Ontology (2016) (3)
- PON‐P and PON‐P2 predictor performance in CAGI challenges: Lessons learned (2017) (3)
- Mu transpososome activity-profiling yields hyperactive MuA variants for highly efficient genetic and genome engineering (2017) (3)
- Conserved residues of liquefying alpha-amylases are concentrated in the vicinity of active site. (1990) (3)
- Establishment of an international database for genetic variants in esophageal cancer (2016) (3)
- PON-All: Amino Acid Substitution Tolerance Predictor for All Organisms (2022) (3)
- Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D-3 Metabolites (2017) (3)
- Measuring and interpreting pervasive heterogeneity, poikilosis (2021) (3)
- Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells (2017) (3)
- Copy Number Variation Analysis in Familial BRCA 1 / 2-Negative Finnish Breast and Ovarian Cancer (2013) (3)
- Accuracy of protein hydropathy predictions (2010) (3)
- MODELING 3-DIMENSIONAL STRUCTURE AND ELECTROSTATICS OF ALKALI-STABLE CYCLOMALTODEXTRIN GLUCANOTRANSFERASE (1993) (2)
- Generic model for biological regulation (2022) (2)
- Conserved and quickly evolving immunome genes have different evolutionary paths (2012) (2)
- Genetic tests need the Human Variome Project. (2011) (2)
- Solubility of proteins (2020) (2)
- Individual Genetic Heterogeneity (2022) (2)
- Signal transduction-related bioinformatics services (2003) (2)
- Peroxisomal multifunctional delta 3,delta 2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase enzyme from rat liver. Identity with peroxisomal bifunctional protein and proposed domain structure. (1992) (2)
- Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases (2017) (2)
- Isoenzymes of delta 3,delta 2-enoyl-CoA isomerase in rat liver. (1992) (2)
- Guidelines for reporting protein modelling studies (2021) (1)
- SIMULTANEOUS COMPARISON OF SEVERAL PRIMARY SEQUENCES AND PREDICTED SECONDARY STRUCTURAL FEATURES (1988) (1)
- Poikilosis – pervasive biological variation (2020) (1)
- Simulation of the Dynamics of Primary Immunodeficiencies in B Cells (2018) (1)
- VarioML framework for comprehensive variation data representation and exchange (2012) (1)
- Combination of Gatekeeper Mutations and Cysteine 481 Replacement Causes Super Resistance to the Irreversible BTK Inhibitors Ibrutinib, Acalabrutinib and Zanubrutinib (2019) (1)
- Pirtobrutinib Targets BTK C481S in Ibrutinib-Resistant CLL but Second-Site BTK Mutations Lead to Resistance. (2022) (1)
- Detection of Pathogenic Mutation Prone Locations from Protein Sequences using Solvent Accessibility Measurements (2007) (1)
- Identification of a novel transcription factorlike gene repressed during TGF-B induced human intestinal epithelial cell differentiation (2000) (1)
- Evaluation of Accuracy and Applicability of Protein Models: Retrospective Analysis of Biological and Biomedical Predictions (2009) (1)
- Immunome, Immtree and Immunity: Databases for Systems Biology of Immune System (2007) (1)
- Mixed T‐ and B Lymphocyte Deficiency Disorders (2010) (1)
- Strategy for Disease Diagnosis, Progression Prediction, Risk Group Stratification and Treatment – Case of COVID-19 (2020) (1)
- The Importance of Proper Testing of Predictor Performance (2015) (1)
- Binary Vector of Real Value Coding for Secondary Structure Prediction? A Case Study of Polyproline Type II Prediction (2001) (1)
- How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis (2012) (1)
- Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology (2021) (1)
- 1 TYPES AND EFFECTS OF PROTEIN VARIATIONS (2016) (0)
- One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins (2017) (0)
- Immunodeficiencies and Immunome: Diseases and Information Services (2009) (0)
- Generic model for biological regulation [version 2; peer review: 2 approved with reservations] (2022) (0)
- Immunodeficiency Information Resources (2013) (0)
- Reverse engineering for gene regulatory networks by Bayesian orthogonal least squares (BOLS) algorithm (2006) (0)
- Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases (2006) (0)
- Structure-based prediction of the effects of a missense variant on protein stability (2012) (0)
- Lead article Changes in apoptosis-related pathways in acute myelocytic leukemia (2003) (0)
- [Genetic databases and their use]. (2000) (0)
- X-linked agammaglobulinemia : A genetic tyrosine kinase disease (1996) (0)
- Systematic errors in annotations of truncations, loss-of-function and synonymous variants (2023) (0)
- Resistance to the Non-Covalent BTK Inhibitor Pirtobrutinib (2022) (0)
- ' s response to reviews Title : NMD and microRNA expression profiling of the HPCX 1 locus reveal MAGEC 1 as a candidate prostate cancer predisposition gene (2011) (0)
- ProTstab – predictor for cellular protein stability (2019) (0)
- Proteomic Changes during B Cell Maturation Salonen , Johanna 2013-1029 (0)
- Structural basis for immunodeficiency-causing mutations in the SH2 domains of BTK and SH2D1A (2001) (0)
- Pathological, and Laboratory Parameters Immunodeficiencies Based on Clinical, Systematic Classification of Primary (2009) (0)
- Representativeness of variation benchmark datasets (2018) (0)
- Modelling of the 3D structure of Bacillus circulant var. alkalophilus cyclomaltodextrin glucanotransferase and comparison with α-amylase (1993) (0)
- Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D-3 Metabolites Tuohimaa (2013) (0)
- The regulation of Bruton's tyrosine kinase (Btk): A B cell signal transducer causing X-linked agammaglobulinemia (1996) (0)
- 1 CLUSTERING OF GENE ONTOLOGY TERMS IN GENOMES (2016) (0)
- Variation ontology: annotator guide (2014) (0)
- SH3 DOMAIN FROM BRUTON'S TYROSINE KINASE, NMR, MINIMIZED AVERAGE STRUCTURE (1998) (0)
- Review paper Immunodeficiency information services (2006) (0)
- PON-SC – program for identifying steric clashes caused by amino acid substitutions (2017) (0)
- Title : Sharing data between LSDBs and central repositories (0)
- XLA - Studies on the Btk tyrosine kinase (1998) (0)
- Mixed T Lymphocyte and B Lymphocyte Deficiency Disorders (2001) (0)
- Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology (2021) (0)
- Whole-Genome Sequencing Reveals Genetic Variant at the HLA Locus Associated with Graft Failure After Heart Transplantation (2022) (0)
- Dynamic covariation between gene expression and genome characteristics. (2008) (0)
- Nonsynonymous synonymous variants demand for a paradigm shift in genetics (2023) (0)
- Making Sense of Unclassified Missense Substitutions in MMR Genes (2013) (0)
- On preprosessing of protein sequences for neural network prediction of polyproline type II secondary structure (2000) (0)
- mechanismsOntology for annotation of variation effects and (2014) (0)
- Checklist for gene/disease‐specific variation database curators to enable ethical data management (2019) (0)
- Articles Virtual Bioinformatics Distance Learning Suite (2004) (0)
- Harmful somatic amino acid substitutions affect key pathways in cancers (2015) (0)
- FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes (2019) (0)
- Types and effects of protein variations (2015) (0)
- Identify New Genetic Variants on Chromosome 6 Associated with Mortality after Heart Transplantation. (2020) (0)
- Perspective Finding Our Way through Phenotypes (2014) (0)
- Profiling genetic variation along the androgen biosynthesis and metabolism pathways implicates several SNPs and their combinations as prostate cancer risk factors (2006) (0)
- Both Generic and Protein‐Specific Tolerance Predictors Are Needed (2016) (0)
- Interpreting Disease Relevance of Amino Acid Substitutions (2014) (0)
- Pan-cancer analysis of neoepitopes (2018) (0)
- Susceptibility to Infectious Diseases: The diverse genetic basis of immunodeficiencies (2003) (0)
- Poikilosis – pervasive biological variation [ version 1 ; peer review : 2 approved ] (2020) (0)
- A ALYSIS OF VARIATIO SITE I POST-TRA SLATIO AL MODIFICATIO (2013) (0)
- SH3 DOMAIN FROM BRUTON'S TYROSINE KINASE, NMR, 42 STRUCTURES (1998) (0)
- Finding Our Way Through Phenotypes (2019) (0)
- Clarity and claims in variation/mutation databasing (2011) (0)
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What Schools Are Affiliated With Mauno Vihinen?
Mauno Vihinen is affiliated with the following schools:
